Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Lignende værker

• Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
  af: Bernard, Geneviève, et al.
  Udgivet: (2011)
• Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
  af: Bernard, Geneviève, et al.
  Udgivet: (2012)
• More Than Hypomyelination in Pol-III Disorder
  af: Vanderver, Adeline, et al.
  Udgivet: (2013)
• Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
  af: Choquet, Karine, et al.
  Udgivet: (2019)
• Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
  af: Choquet, Karine, et al.
  Udgivet: (2017)